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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA4534468
Gene: KEL
HGNC
NCBI
Linked Data
dbSNP Id:
rs150259463
ExAC:
7:142651363 T / C
gnomAD v2:
7-142651363-T-C
gnomAD v3:
7-142954276-T-C
gnomAD v4:
7-142954276-T-C
MyVariant Identifiers:
chr7:g.142651363T>C (hg19)
chr7:g.142954276T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.142954276T>C , CM000669.2:g.142954276T>C
GRCh38
NC_000007.13:g.142651363T>C , CM000669.1:g.142651363T>C
GRCh37
NC_000007.12:g.142361485T>C
NCBI36
NG_007492.1:g.13141A>G
NG_007492.2:g.13141A>G
NG_007492.3:g.13141A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000355265.7:c.832A>G
MANE Select
ENSP00000347409.2:p.Ile278Val
ENST00000355265.6:c.832A>G
ENSP00000347409.2:p.Ile278Val
ENST00000479768.6:n.950A>G
NM_000420.2:c.832A>G
NP_000411.1:p.Ile278Val
XM_005249993.2:c.868A>G
XP_005250050.1:p.Ile290Val
XM_005249994.3:c.-116A>G
XP_005250051.1:n.-116A>G
NM_000420.3:c.832A>G
MANE Select
NP_000411.1:p.Ile278Val
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